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2 results on '"Omirbek Nuralinov"'

1. RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohort.

Author

Ainur Akilzhanova, Christian Guelly, Omirbek Nuralinov, Zhannur Nurkina, Dinara Nazhat, Shalkhar Smagulov, Azat Tursunbekov, Anar Alzhanova, Gulzhaina Rashbayeva, Ayan Abdrakhmanov, Sholpan Dosmagambet, Slave Trajanoski, Zhaxybay Zhumadilov, Almaz Sharman, and Mahabbat Bekbosynova

Subjects
Medicine, Science
Abstract

Channelopathies, caused by disturbed potassium or calcium ion management in cardiac myocytes are a major cause of heart failure and sudden cardiac death worldwide. The human ryanodine receptor 2 (RYR2) is one of the key players tightly regulating calcium efflux from the sarcoplasmic reticulum to the cytosol and found frequently mutated (T; p.D4631V) in a CPVT patient and a novel rare variant (c5428G>C; p.V1810L) of uncertain significance in a patient with VT of idiopathic origin which we suggest represents a low-penetrance or susceptibility variant. In addition we identified a known variant previously associated with arrhythmogenic right ventricular dysplasia type2 (ARVD2). Combining sets of prediction scores and reference databases appeared fundamental to predict the pathogenic potential of novel and rare missense variants in populations where genotype data are rare.

Published
2014
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2. RYR2 Sequencing Reveals Novel Missense Mutations in a Kazakh Idiopathic Ventricular Tachycardia Study Cohort

Author

Sholpan Dosmagambet, Mahabbat Bekbosynova, Christian Guelly, Dinara Nazhat, Zhaxybay Zhumadilov, Ayan Abdrakhmanov, Zhannur Nurkina, Slave Trajanoski, Shalkhar Smagulov, Gulzhaina Rashbayeva, Almaz Sharman, Anar Alzhanova, Ainur Akilzhanova, Omirbek Nuralinov, and Azat Tursunbekov

Subjects
Tachycardia, Male, lcsh:Medicine, Gene Expression, Ventricular tachycardia, Bioinformatics, Ryanodine receptor 2, Sudden cardiac death, Cohort Studies, Electrocardiography, Genotype, Medicine and Health Sciences, Missense mutation, lcsh:Science, Genetics, Multidisciplinary, Genomics, Kazakhstan, Arrhythmogenic right ventricular dysplasia, Cardiovascular Diseases, cardiovascular system, Female, medicine.symptom, Arrhythmia, Research Article, Adult, Molecular Sequence Data, Cardiology, Mutation, Missense, Biology, Genomic Medicine, medicine, Animals, Humans, Genetic Testing, Clinical Genetics, Base Sequence, lcsh:R, Personalized Medicine, Biology and Life Sciences, Human Genetics, Ryanodine Receptor Calcium Release Channel, Sequence Analysis, DNA, medicine.disease, Heart failure, Genetics of Disease, Mutation, Tachycardia, Ventricular, lcsh:Q
Abstract

Channelopathies, caused by disturbed potassium or calcium ion management in cardiac myocytes are a major cause of heart failure and sudden cardiac death worldwide. The human ryanodine receptor 2 (RYR2) is one of the key players tightly regulating calcium efflux from the sarcoplasmic reticulum to the cytosol and found frequently mutated (T; p.D4631V) in a CPVT patient and a novel rare variant (c5428G>C; p.V1810L) of uncertain significance in a patient with VT of idiopathic origin which we suggest represents a low-penetrance or susceptibility variant. In addition we identified a known variant previously associated with arrhythmogenic right ventricular dysplasia type2 (ARVD2). Combining sets of prediction scores and reference databases appeared fundamental to predict the pathogenic potential of novel and rare missense variants in populations where genotype data are rare.

Published
2014

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